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Gene Review

JBS  -  Jacobsen syndrome

Homo sapiens

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Disease relevance of JBS


Psychiatry related information on JBS


High impact information on JBS


Biological context of JBS

  • Since deletion of subband 11q24.1 is critical for full expression of this syndrome, the JBS phenotype could be an example of contiguous gene syndrome [12].
  • The JBS chart approximates age and systolic blood pressure, and the new Sheffield table dichotomises blood pressure, and these simplifications may lead to diagnostic inaccuracy [13].
  • We have tested this hypothesis by high resolution physical mapping of FRA11B and of the deletion chromosome breakpoint in the Jacobsen syndrome patient [9].
  • CONCLUSION: Our case demonstrates significant phenotypic variability of Jacobsen syndrome at midtrimester pregnancy; the syndrome may be manifested at this stage only by mild to moderate ventriculomegaly of the brain [14].
  • The clinical features and cytogenetic findings of this patient are compared with those of previously reported cases with interstitial deletions 11q and patients with terminal deletions involving band 11q24.1 (leading to the so-called Jacobsen syndrome) [15].

Anatomical context of JBS


Associations of JBS with chemical compounds

  • Beginning 17 days before the initiation of progestin therapy and continuing until slaughter, gilts were fed 2.27 kg of a basal diet (n=24) or the basal diet supplemented with 1% Fertilium (JBS United, Inc., Sheridan, IN) (n=24), a source of omega-3 polyunsaturated fatty acids [18].
  • Moreover, a higher proportion of patients on ezetimibe/simvastatin achieved the National Standard Framework LDL-C standard (<3.0 mmol/l; 93% vs. 75%, p < 0.001) or the new Joint British Societies (JBS 2) goal of LDL-C < 2.0 mmol/l (49.3% vs. 11.1%, p < 0.001) [19].

Other interactions of JBS

  • This places alpha-tectorin within the genetic interval that contains both the human nonsyndromic autosomal dominant deafness DFNA12 and the proximal limit of a subset of deletions within Jacobsen syndrome [4].
  • It is doubtful that parents with FRA11B are at increased risk of having children with Jacobsen syndrome, but this cannot be ruled out [20].
  • RESULTS: The most common ophthalmologic findings in the new cases of Jacobsen syndrome included strabismus (90.0%), refractive error (90.0%), and ptosis (70.0%) [21].

Analytical, diagnostic and therapeutic context of JBS

  • METHODS: A chart review of antimetabolite-augmented surgical procedures done by DJG and JBS between January 1994 and November 2000 identified 82 primary or secondary trabeculectomies and 53 combined phacoemulsification-trabeculectomies with at least one year of follow-up [22].
  • Amniocentesis was performed and chromosome analysis showed the karyotype 46,XY, del(11)(q23) found in Jacobsen syndrome [23].


  1. Local gene therapy of solid tumors with GM-CSF and B7-1 eradicates both treated and distal tumors. Collins, C.G., Tangney, M., Larkin, J.O., Casey, G., Whelan, M.C., Cashman, J., Murphy, J., Soden, D., Vejda, S., McKenna, S., Kiely, B., Collins, J.K., Barrett, J., Aarons, S., O'sullivan, G.C. Cancer Gene Ther. (2006) [Pubmed]
  2. Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. Pivnick, E.K., Velagaleti, G.V., Wilroy, R.S., Smith, M.E., Rose, S.R., Tipton, R.E., Tharapel, A.T. J. Med. Genet. (1996) [Pubmed]
  3. Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome. Van Hemel, J.O., Eussen, B., Wesby-van Swaay, E., Oostra, B.A. Hum. Genet. (1992) [Pubmed]
  4. Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. Hughes, D.C., Legan, P.K., Steel, K.P., Richardson, G.P. Genomics (1998) [Pubmed]
  5. A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes. Matheisel, A., Babinska, M., Wierzba, J., Wozniak, A., Nedoszytko, B., Balcerska, A., Limon, J. Genetic counseling (Geneva, Switzerland) (2000) [Pubmed]
  6. Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion. Böhm, D., Hoffmann, K., Laccone, F., Wilken, B., Dechent, P., Frahm, J., Bartels, I., Bohlander, S.K. Am. J. Med. Genet. A (2006) [Pubmed]
  7. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. Raslova, H., Komura, E., Le Couédic, J.P., Larbret, F., Debili, N., Feunteun, J., Danos, O., Albagli, O., Vainchenker, W., Favier, R. J. Clin. Invest. (2004) [Pubmed]
  8. Clinical and molecular characterization of patients with distal 11q deletions. Penny, L.A., Dell'Aquila, M., Jones, M.C., Bergoffen, J., Cunniff, C., Fryns, J.P., Grace, E., Graham, J.M., Kousseff, B., Mattina, T. Am. J. Hum. Genet. (1995) [Pubmed]
  9. Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Jones, C., Slijepcevic, P., Marsh, S., Baker, E., Langdon, W.Y., Richards, R.I., Tunnacliffe, A. Hum. Mol. Genet. (1994) [Pubmed]
  10. Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q. Tunnacliffe, A., Jones, C., Le Paslier, D., Todd, R., Cherif, D., Birdsall, M., Devenish, L., Yousry, C., Cotter, F.E., James, M.R. Genome Res. (1999) [Pubmed]
  11. Cloning and chromosomal localization of the human BARX2 homeobox protein gene. Krasner, A., Wallace, L., Thiagalingam, A., Jones, C., Lengauer, C., Minahan, L., Ma, Y., Kalikin, L., Feinberg, A.P., Jabs, E.W., Tunnacliffe, A., Baylin, S.B., Ball, D.W., Nelkin, B.D. Gene (2000) [Pubmed]
  12. Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients. Obregon, M.G., Mingarelli, R., Digilio, M.C., Zelante, L., Giannotti, A., Sabatino, G., Dallapiccola, B. Ann. Genet. (1992) [Pubmed]
  13. Comparative evaluation of the new Sheffield table and the modified joint British societies coronary risk prediction chart against a laboratory based risk score calculation. Rabindranath, K.S., Anderson, N.R., Gama, R., Holland, M.R. Postgraduate medical journal. (2002) [Pubmed]
  14. Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q. Boehm, D., Laccone, F., Burfeind, P., Herold, S., Schubert, C., Zoll, B., Männer, J., Pauer, H.U., Bartels, I. Prenat. Diagn. (2006) [Pubmed]
  15. Interstitial deletion 11q. Case report and review of the literature. De Pater, J.M., Ippel, P.F., Bijlsma, J.B., Van Nieuwenhuizen, O. Genetic counseling (Geneva, Switzerland) (1997) [Pubmed]
  16. Jacobsen Syndrome and Beckwith-Wiedemann Syndrome Caused by a Parental Pericentric Inversion inv(11)(p15q24). Gadzicki, D., Baumer, A., Wey, E., Happel, C.M., Rudolph, C., T??nnies, H., Neitzel, H., Steinemann, D., Welte, K., Klein, C., Schlegelberger, B. Ann. Hum. Genet. (2006) [Pubmed]
  17. Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. von Bubnoff, D., Kreiss-Nachtsheim, M., Novak, N., Engels, E., Engels, H., Behrend, C., Propping, P., de la Salle, H., Bieber, T. Am. J. Med. Genet. A (2004) [Pubmed]
  18. Effects of dietary supplementation with omega-3 polyunsaturated fatty acids on some reproductive characteristics in gilts. Estienne, M.J., Harper, A.F., Estienne, C.E. Reproductive biology (2006) [Pubmed]
  19. Efficacy, safety and LDL-C goal attainment of ezetimibe 10 mg-simvastatin 20 mg vs. placebo-simvastatin 20 mg in UK-based adults with coronary heart disease and hypercholesterolaemia. Patel, J.V., Hughes, E.A. International journal of clinical practice. (2006) [Pubmed]
  20. The clinical significance of fragile sites on human chromosomes. Sutherland, G.R., Baker, E. Clin. Genet. (2000) [Pubmed]
  21. Ocular findings in Jacobsen syndrome. Lee, W.B., O'Halloran, H.S., Grossfeld, P.D., Scher, C., Jockin, Y.M., Jones, C. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus. (2004) [Pubmed]
  22. Is intraocular pressure in the early postoperative period predictive of antimetabolite-augmented filtration surgery success? Polikoff, L.A., Taglienti, A., Chanis, R.A., Ramos-Esteban, J.C., Donas, N., Tsong, J., Gagliuso, D.J., Danias, J., Serle, J.B. Journal of glaucoma. (2005) [Pubmed]
  23. Nuchal thickening in Jacobsen syndrome. McClelland, S.M., Smith, A.P., Smith, N.C., Gray, E.S., Diack, J.S., Dean, J.C. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (1998) [Pubmed]
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